Carol Van Ryzin
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Sexual Differentiation and Disorders, Folate and B Vitamins Research, Adrenal Hormones and Disorders, Hormonal and reproductive studies
Most-Cited Works
- → Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia(2012)299 cited
- → Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency(2010)189 cited
- → A Phase 2 Study of Chronocort, a Modified-Release Formulation of Hydrocortisone, in the Treatment of Adults With Classic Congenital Adrenal Hyperplasia(2014)158 cited
- → A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome(2017)106 cited
- → Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency(2011)82 cited
- → Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families(2011)79 cited
- → Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia(2013)72 cited
- → Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia(2012)49 cited
- → Chronic kidney disease in propionic acidemia(2019)44 cited
- → Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis(2023)34 cited